A75T (p.Ala75Thr) variant of SHMT2 (P34897)
A75T (p.Ala75Thr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- Ensembl rs773986530
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available